ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA234972
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000534.3:p.Arg498His
NM_000543.5:c.1493G>A