ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826978844
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Ala359Val
CA379371874
NM_001318087.2:c.1076C>T