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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:
CA2470507140
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11996278_11996279delinsCA , CM000686.2:g.11996278_11996279delinsCA
GRCh38
NC_000024.9:g.14116984_14116985delinsCA , CM000686.1:g.14116984_14116985delinsCA
GRCh37
NC_000024.8:g.12626984_12626985delinsCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'