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: PA1139700480

Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 854087

ClinVar RCV Id: RCV001059048

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Asn274_Val275del	CA6162448 NM_001360.3:c.820_825del