Canonical Allele Identifier: PA2742022251
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2996752
ClinVar RCV Id: RCV003858887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_847894.1:p.Ser41Cys
CA373795501
NM_178324.3:c.122C>G