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: PA2828169346

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136989

ClinVar RCV Id: RCV003037365 RCV003331417

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.His379Arg	CA5852844 NM_001365135.1:c.1136A>G