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: PA234972

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167712

ClinVar RCV Id: RCV000179324 RCV000806406 RCV001527430 RCV001248980 RCV001814072

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg498His	CA234971 NM_000543.5:c.1493G>A