ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474193
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.1197752543
Linked Data - NCBI & NCI
ClinVar Allele:
392868
ClinVar RCV:
RCV000473029
RCV001535616
RCV002329043
RCV003463908
ClinVar Variation:
408525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Lys392Met
CA027158
NM_000251.3:c.1175A>T