ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825288438
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305199
ClinVar RCV Id:
RCV000382375
RCV000735167
RCV001085518
RCV003977882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Gly269Ser
CA5852691
NM_001007593.3:c.805G>A