ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194125
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.1772128556
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165743
RCV000529191
RCV003332132
ClinVar Variation:
186196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu647Gln
CA019596
NM_000251.3:c.1939G>C