ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022269
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2988
ClinVar RCV Id:
RCV000003122
RCV001248870
RCV002512692
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Asn78Ser
CA252519
NM_001318088.2:c.233A>G