ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357532
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.4721732155
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000205243
RCV000567614
RCV000765669
RCV002469065
RCV003477681
ClinVar Variation:
219605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln601Arg
CA031443
NM_000251.3:c.1802A>G