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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:
CA1566805542
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.99379980_99379981delinsGA , CM000667.2:g.99379980_99379981delinsGA
GRCh38
NC_000005.9:g.98715684_98715685delinsGA , CM000667.1:g.98715684_98715685delinsGA
GRCh37
NC_000005.8:g.98743583_98743584delinsGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'