ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916045153
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555444
ClinVar RCV Id:
RCV000671268
RCV001527420
RCV003767992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Gly319Arg
CA5852716
NM_001365135.1:c.955G>C