ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA276173
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006406.1:p.Glu358Gln
CA276171
NM_006415.4:c.1072G>C