ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982533
Gene: SPTLC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004854.1:p.Ser384Phe
CA390708429
NM_004863.4:c.1151C>T