ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826444347
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131577
RCV000199653
RCV000212433
RCV000586622
RCV000791342
RCV003153427
RCV003389239
ClinVar Variation:
142448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Leu15Pro
CA294400
NM_001257387.2:c.44T>C