ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828287801
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355202.1:p.Ala313Ser
CA5121188
NM_001368273.1:c.937G>T