ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119305
Gene: SMO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8118
ClinVar RCV Id:
RCV000008587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005622.1:p.Arg562Gln
CA119304
NM_005631.5:c.1685G>A