ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827075514
Gene: TBX4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7855
ClinVar RCV Id:
RCV000008305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308049.1:p.Gly248Val
CA340707
NM_001321120.2:c.743G>T