Allele Registry

Canonical Allele Identifier: PA2826622333

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000522579

RCV001267702

RCV003152607

ClinVar Variation:

450572

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268232.1:p.Tyr23Phe	CA373795895 NM_001281303.2:c.68A>T