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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:
CA2337658744
Gene:
Linked Data
dbSNP Id:
rs3760982
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.43782361A>T , CM000681.2:g.43782361A>T
GRCh38
NC_000019.9:g.44286513A>T , CM000681.1:g.44286513A>T
GRCh37
NC_000019.8:g.48978353A>T
NCBI36
NG_052672.1:g.4779T>A
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