ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252531
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001007594.2:p.Tyr468Ser
NM_001007593.3:c.1403A>C