ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825880700
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000143952
RCV000230825
RCV002470771
ClinVar Variation:
155836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Val17Met
CA020081
NM_001145102.2:c.49G>A