Canonical Allele Identifier: PA2826622333
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450572
ClinVar RCV Id: RCV000522579 RCV001267702 RCV003152607
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Amino-acid Alleles

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