ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828169526
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2582293
ClinVar RCV Id:
RCV003333259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Asn450Ile
CA379375576
NM_001365135.1:c.1349A>T