ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916045149
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001352064.1:p.Leu304Pro
NM_001365135.1:c.911T>C