Canonical Allele Identifier: PA2828287746
Gene: SPTLC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355202.1:p.Gly216Arg
CA5121315
NM_001368273.1:c.646G>A
CA373792138
NM_001368273.1:c.646G>C