ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825288503
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2020354
ClinVar RCV Id:
RCV002857215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Pro324Ser
CA379371452
NM_001007593.3:c.970C>T