Allele Registry

Canonical Allele Identifier: PA916047234

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005068

RCV000235837

RCV001174070

RCV001249799

RCV002326664

ClinVar Variation:

4801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355201.1:p.Val22Asp	CA340288 NM_001368272.1:c.65T>A