ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826978823
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501715
ClinVar RCV Id:
RCV000595643
RCV002506436
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Pro332Leu
CA5852723
NM_001318087.2:c.995C>T