ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484328
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426901
ClinVar RCV Id:
RCV000489172
RCV002481557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Ser26Leu
CA386863551
NM_000192.3:c.77C>T