ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020502
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013347
ClinVar Variation:
12522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Thr204Ile
CA008835
NM_001306210.2:c.611C>T