ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA288265
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115987
RCV000212454
RCV000230538
RCV001270934
RCV003114262
ClinVar Variation:
128049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Val395Leu
CA288264
NM_007194.4:c.1183G>C