ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828169554
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Arg454Leu
CA252505
NM_001365135.1:c.1361G>T