ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828287755
Gene: SPTLC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005069
RCV000789583
RCV001249812
RCV001310659
RCV002371761
ClinVar Variation:
4802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355202.1:p.Gly232Ala
CA340290
NM_001368273.1:c.695G>C