ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346667
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180526
ClinVar RCV Id:
RCV000157503
RCV000547199
RCV003998342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Val377Ile
CA020043
NM_005902.4:c.1129G>A