ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104095
Gene: TBX5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008462
ClinVar Variation:
7998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Ile54Thr
CA254304
NM_000192.3:c.161T>C