ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825744746
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520226
ClinVar RCV Id:
RCV000660316
RCV004002735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124388.1:p.Leu329Ile
CA044656
NM_001130916.3:c.985T>A