ClinGen Allele Registry
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Canonical Allele Identifier:
PA346690
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
178600
ClinVar RCV:
RCV000157517
RCV002516367
ClinVar Variation:
180539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Arg482Gly
CA008762
NM_004612.4:c.1444A>G