ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077494
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Gln49Lys
CA254302
NM_181486.4:c.145C>A