ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096345
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013347
ClinVar Variation:
12522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Thr200Ile
CA008835
NM_004612.4:c.599C>T