ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742045
Gene: SPTLC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917296
ClinVar RCV Id:
RCV001174079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355201.1:p.Leu26Val
CA5121543
NM_001368272.1:c.76T>G