ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826978858
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1173971
ClinVar RCV Id:
RCV001527423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Leu371Pro
CA379372837
NM_001318087.2:c.1112T>C