ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020526
Gene: TGFBR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Glu249Lys
CA16605589
NM_001306210.2:c.745G>A