ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826979045
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197685
ClinVar RCV Id:
RCV000178790
RCV003387789
RCV002516782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Thr153Pro
CA245953
NM_001318088.2:c.457A>C