ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915975570
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006406.1:p.Leu353Phe
CA373792427
NM_006415.4:c.1057C>T