ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826986198
Gene: TBATA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375275
ClinVar RCV Id:
RCV000416372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305172.1:p.Arg53Cys
CA5540969
NM_001318243.2:c.157C>T