ClinGen Allele Registry
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Canonical Allele Identifier:
PA916077583
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7995
ClinVar RCV Id:
RCV000008459
RCV000128627
RCV000473181
RCV002362570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Arg237Trp
CA163404
NM_181486.4:c.709C>T