ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573197473
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1463632
ClinVar RCV Id:
RCV001997756
RCV004010997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Phe412Ile
CA374233057
NM_001306210.2:c.1234T>A