ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825288489
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Val313Ala
CA379371322
NM_001007593.3:c.938T>C