ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825881530
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000198134
RCV003642875
ClinVar Variation:
213776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Asp364His
CA322624
NM_001145103.2:c.1090G>C