ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331223
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.8465185773
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000574719
RCV000629732
RCV003997140
ClinVar Variation:
90541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn361Ser
CA017221
NM_000251.3:c.1082A>G