ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825288378
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Cys227Arg
CA379370790
NM_001007593.3:c.679T>C