ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA178151
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165394
ClinVar RCV Id:
RCV000152007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Leu386del
CA020601
NM_001024847.2:c.1157_1159del