ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076029
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518715
ClinVar RCV Id:
RCV000618252
RCV000765609
RCV000876712
RCV001574708
RCV003479173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366129.1:p.Gly359Asp
CA10102660
NM_001379200.1:c.1076G>A