ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104066
Gene: TBX5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008459
RCV000128627
RCV000473181
RCV002362570
ClinVar Variation:
7995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Arg237Trp
CA163404
NM_000192.3:c.709C>T