ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245954
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197685
ClinVar RCV Id:
RCV000178790
RCV003387789
RCV002516782
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Thr460Pro
CA245953
NM_000543.5:c.1378A>C