ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825288290
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1433923
ClinVar RCV Id:
RCV001984492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Val146Met
CA217299369
NM_001007593.3:c.436G>A