ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827475600
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140932
ClinVar RCV Id:
RCV000129204
RCV000227256
RCV000214585
RCV000765620
RCV001030685
RCV001201286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ser185Asn
CA163957
NM_001349956.2:c.554G>A