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: PA2828169788

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235264

ClinVar RCV Id: RCV000344652 RCV000224009 RCV000366169 RCV001081400 RCV003919900

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Thr544Met	CA5852983 NM_001365135.1:c.1631C>T