ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195625
Gene: SPTLC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004854.1:p.Ala234Val
CA7289396
NM_004863.4:c.701C>T