ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829660931
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006406.1:p.Leu38Arg
CA373795568
NM_006415.4:c.113T>G