ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334092
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
3.1286323772
Linked Data - NCBI & NCI
ClinVar Allele:
185977
ClinVar RCV:
RCV000167977
RCV000223301
RCV000240465
RCV003454423
ClinVar Variation:
188119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly164Glu
CA021218
NM_000251.3:c.491G>A