ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830161082
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_542448.1:p.Ser202Thr
CA10588541
NM_080717.4:c.605G>C