Allele Registry

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.

Canonical Allele Identifier: PA645497928

Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 239077

ClinVar RCV Id: RCV000231969 RCV002261017

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg175His	CA10581948 NM_001927.4:c.524G>A