ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324753
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213891
ClinVar RCV Id:
RCV001314592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Ile411Val
CA324752
NM_004612.4:c.1231A>G