ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826444803
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000568640
RCV003607312
ClinVar Variation:
481128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Val178Phe
CA411096785
NM_001257387.2:c.532G>T