ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830127021
Gene: TBX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3190657
ClinVar RCV:
RCV003907094
ClinVar Variation:
3034724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542378.1:p.Gln277Arg
CA410683540
NM_080647.1:c.830A>G