ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827310199
Gene: TPRKB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444885
ClinVar RCV Id:
RCV000512903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317320.1:p.Tyr116Cys
CA347268763
NM_001330391.2:c.347A>G