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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:
CA1754470554
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.155178755_155178756delinsCT , CM000669.2:g.155178755_155178756delinsCT
GRCh38
NC_000007.13:g.154970465_154970466delinsCT , CM000669.1:g.154970465_154970466delinsCT
GRCh37
NC_000007.12:g.154601398_154601399delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'