ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829616176
Gene: TBX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3228971
ClinVar RCV Id:
RCV004522598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005983.1:p.Pro239Ala
CA410683281
NM_005992.1:c.715C>G