ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119303
Gene: SMO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8117
ClinVar RCV Id:
RCV000008586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005622.1:p.Trp535Leu
CA119302
NM_005631.5:c.1604G>T