ClinGen Allele Registry
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Canonical Allele Identifier:
PA346696
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180541
ClinVar RCV Id:
RCV000157520
RCV000225734
RCV000995668
RCV000987137
RCV001042957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Asp549Asn
CA020712
NM_001024847.2:c.1645G>A