ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020565
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177890
ClinVar RCV Id:
RCV000154542
RCV003528143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Arg336_Asp337del
CA008887
NM_001306210.2:c.1006_1011del