ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022265
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496822
ClinVar RCV Id:
RCV000594397
RCV003767346
RCV003992340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Pro66Ser
CA379372866
NM_001318088.2:c.196C>T