ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826978856
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288073
ClinVar RCV Id:
RCV000292122
RCV001004584
RCV001249051
RCV001218398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Tyr369Cys
CA10605962
NM_001318087.2:c.1106A>G