ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830161013
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3051229
ClinVar RCV Id:
RCV003957285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542448.1:p.Gly119Val
CA386861944
NM_080717.4:c.356G>T