ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741879562
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2562906
ClinVar RCV Id:
RCV003296899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366129.1:p.Phe272Ile
CA410683449
NM_001379200.1:c.814T>A