ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196238
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.2236308657
Linked Data - NCBI & NCI
ClinVar Allele:
181909
ClinVar RCV:
RCV000166585
RCV000205937
RCV000662555
RCV003995514
ClinVar Variation:
186918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly146Val
CA021161
NM_000251.3:c.437G>T