ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479175
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405558
ClinVar RCV Id:
RCV000464535
RCV000788823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Arg323His
CA062868
NM_005902.4:c.968G>A