ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096316
Gene: TGFBR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004603.1:p.Met318Arg
NM_004612.4:c.953T>G