ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139694249
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213897
ClinVar RCV Id:
RCV001341631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Ser240del
CA323464
NM_001306210.2:c.717_719del