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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:
CA1682466453
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.1245459_1245460delinsTG , CM000669.2:g.1245459_1245460delinsTG
GRCh38
NC_000007.13:g.1285095_1285096delinsTG , CM000669.1:g.1285095_1285096delinsTG
GRCh37
NC_000007.12:g.1251621_1251622delinsTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'