ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247503
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1060269
ClinVar RCV Id:
RCV001369673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Ala384Ser
CA196894127
NM_001306210.2:c.1150G>T