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: PA2825288520

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966461

ClinVar RCV Id: RCV001241146 RCV001835093

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Asn336Ser	CA5852730 NM_001007593.3:c.1007A>G