ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111511
Gene: THRB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000452.2:p.Arg316His
NM_000461.5:c.947G>A