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: PA2573063726

Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339455

ClinVar RCV Id: RCV001843330

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000776.1:p.Asn387Thr	CA385502739 NM_000785.4:c.1160A>C