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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:
CA1789126654
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.63477225_63477228delinsCCTT , CM000670.2:g.63477225_63477228delinsCCTT
GRCh38
NC_000008.10:g.64389783_64389786delinsCCTT , CM000670.1:g.64389783_64389786delinsCCTT
GRCh37
NC_000008.9:g.64552337_64552340delinsCCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'