ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320851
Gene: TGFBR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Glu382Lys
CA320850
NM_004612.4:c.1144G>A