ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741872170
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947279
ClinVar RCV Id:
RCV003801469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Ala100Val
CA379368476
NM_001365135.1:c.299C>T