ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020554
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
573117
ClinVar RCV Id:
RCV000694696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Ser312Phe
CA374230742
NM_001306210.2:c.935C>T