ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272990
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44651
ClinVar RCV Id:
RCV000037728
RCV000148893
RCV000249404
RCV000288248
RCV000345619
RCV000509502
RCV000768109
RCV001094865
RCV001703884
RCV002277125
RCV003224121
RCV003904922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Val412Met
CA020617
NM_001024847.2:c.1234G>A