ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020513
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483348
ClinVar Variation:
418515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Glu231Val
CA16618918
NM_001306210.2:c.692A>T