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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1139045730
Gene: RBMY2QP
HGNC
NCBI
Linked Data
gnomAD v3:
Y-9999279-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
Y-9999279-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.9999299_9999300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.2:g.9999299_9999300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38
NC_000024.9:g.9836908_9836909insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000686.1:g.9836908_9836909insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37
NC_000024.8:g.10446908_10446909insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651645.1:n.835-3565_835-3564insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Search 100 bp 5'
Search 100 bp 3'