ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484496
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265264
ClinVar RCV Id:
RCV000255260
RCV000782337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Ser252Thr
CA10588541
NM_000192.3:c.755G>C