ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826978627
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502573
ClinVar RCV Id:
RCV000596004
RCV001037515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Pro184Leu
CA5852623
NM_001318087.2:c.551C>T