ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826979081
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2024216
ClinVar RCV Id:
RCV002863151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Gly185Arg
CA379375554
NM_001318088.2:c.553G>C