ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826978945
Gene: SMPD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003809109
ClinVar Variation:
2946871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Pro12His
CA472736566
NM_001318088.2:c.35C>A