ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321750
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000197297
RCV000507920
RCV002363012
ClinVar Variation:
213875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Ser236Phe
CA321749
NM_004612.4:c.707C>T