ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830161244
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542448.1:p.Ala412Ser
CA386925177
NM_080717.4:c.1234G>T