ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020481
Gene: TGFBR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Ile143Val
CA008552
NM_001306210.2:c.427A>G