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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:
CA2534249378
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.121635034_121635036del , CM000669.2:g.121635034_121635036del
GRCh38
NC_000007.13:g.121275088_121275090del , CM000669.1:g.121275088_121275090del
GRCh37
NC_000007.12:g.121062324_121062326del
NCBI36
Search 100 bp 5'
Search 100 bp 3'