ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828287585
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355201.1:p.Gly265Ala
CA340290
NM_001368272.1:c.794G>C