ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825288707
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93317
ClinVar RCV Id:
RCV000079195
RCV000336908
RCV000588146
RCV001511035
RCV001533322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Gly507Arg
CA146859
NM_001007593.3:c.1519G>A
CA347284
NM_001007593.3:c.1519G>C