Canonical Allele Identifier: PA2828287577
Gene: SPTLC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355201.1:p.Gly249Arg
CA5121315
NM_001368272.1:c.745G>A
CA373792138
NM_001368272.1:c.745G>C