ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826622501
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268232.1:p.Ile325Thr
CA5121365
NM_001281303.2:c.974T>C