ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825288699
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225626
ClinVar RCV Id:
RCV000211503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Tyr499Asn
CA10576032
NM_001007593.3:c.1495T>A