ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826978959
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
879582
ClinVar RCV Id:
RCV001107211
RCV002067790
RCV001577517
RCV003160636
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Pro33Ser
CA5852745
NM_001318088.2:c.97C>T