ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139723798
Gene: TGFBR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Ala4Val
CA374223482
NM_004612.4:c.11C>T