ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323465
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001341631
ClinVar Variation:
213897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004603.1:p.Ser236del
CA323464
NM_004612.4:c.705_707del