ClinGen Allele Registry
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Canonical Allele Identifier:
PA325319
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
210279
ClinVar RCV:
RCV000200741
RCV000707738
ClinVar Variation:
213763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Asp258His
CA325318
NM_005902.4:c.772G>C