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: PA916022272

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2991

ClinVar RCV Id: RCV000003125 RCV000410490 RCV000797253 RCV001248981 RCV004546410

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Trp86Gly	CA115899 NM_001318088.2:c.256T>G