ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826622386
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268232.1:p.Cys133Phe
CA373788049
NM_001281303.2:c.398G>T