Canonical Allele Identifier: PA916075577
Gene: SPTLC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_847894.1:p.Val130Leu
CA5121582
NM_178324.3:c.388G>T
CA5121583
NM_178324.3:c.388G>C