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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:
CA2601978388
Gene:
Linked Data
dbSNP Id:
rs948361533
gnomAD v3:
8-92207543-T-TC
gnomAD v4:
8-92207543-T-TC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.92207549dup , CM000670.2:g.92207549dup
GRCh38
NC_000008.10:g.93219777dup , CM000670.1:g.93219777dup
GRCh37
NC_000008.9:g.93288953dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'