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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:
CA1139014488
Gene:
Linked Data
dbSNP Id:
rs2016295024
gnomAD v3:
Y-9894252-CCT-C
gnomAD v4:
Y-9894252-CCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.9894254_9894255del , CM000686.2:g.9894254_9894255del
GRCh38
NC_000024.9:g.9731863_9731864del , CM000686.1:g.9731863_9731864del
GRCh37
NC_000024.8:g.10341863_10341864del
NCBI36
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Search 100 bp 3'