ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299323
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.720116896
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160592
RCV000218047
RCV000228006
RCV000708832
RCV002243830
RCV003467248
RCV003492653
ClinVar Variation:
182564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg524His
CA018637
NM_000251.3:c.1571G>A