ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830300719
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131415
RCV000204676
RCV000588152
RCV001543106
RCV003330506
RCV003483506
ClinVar Variation:
142342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ile221Met
CA294367
NM_145862.2:c.663C>G