ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180947
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_004603.1:p.Arg332_Asp333del
CA008887
NM_004612.4:c.994_999del