ClinGen Allele Registry
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Canonical Allele Identifier:
PA294316
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
151910
ClinVar RCV:
RCV000131183
RCV000212416
RCV000233502
RCV001818320
RCV004532568
ClinVar Variation:
142196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.His143Arg
CA294315
NM_007194.4:c.428A>G