ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287434
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-6.1204434321
Linked Data - NCBI & NCI
ClinVar Allele:
96463
ClinVar RCV:
RCV000115519
RCV000212621
RCV000410916
RCV000656882
RCV001082618
RCV003997162
ClinVar Variation:
90988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn835His
CA020651
NM_000251.3:c.2503A>C