ClinGen Allele Registry
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Canonical Allele Identifier:
PA164561
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000129508
RCV000206654
RCV000589481
RCV001175352
RCV001357703
RCV003483495
RCV003493452
ClinVar Variation:
141136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ala392Val
CA164560
NM_007194.4:c.1175C>T