Canonical Allele Identifier: PA916075547
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246520
ClinVar RCV Id: RCV000236861 RCV003223342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_847894.1:p.Ala20Ser
CA10584304
NM_178324.3:c.58G>T