ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828169452
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2996
ClinVar RCV Id:
RCV000003131
RCV001379382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Tyr425Ser
CA252530
NM_001365135.1:c.1274A>C