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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:
CA2824874784
Gene: XGY1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12500290del , CM000686.2:g.12500290del
GRCh38
NC_000024.9:g.14612084del , CM000686.1:g.14612084del
GRCh37
NC_000024.8:g.13122092del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000381172.3:n.61+7019del
Search 100 bp 5'
Search 100 bp 3'