ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826978585
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
879894
ClinVar RCV Id:
RCV001107781
RCV002555053
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Val132Met
CA5852592
NM_001318087.2:c.394G>A