ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829554588
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2114646
ClinVar RCV Id:
RCV003042890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Val279Ala
CA374230551
NM_004612.4:c.836T>C