ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA334478
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.7537672178
Linked Data - NCBI & NCI
ClinVar Allele:
185979
ClinVar RCV:
RCV000168245
RCV001019487
RCV003995617
ClinVar Variation:
188267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asp319Val
CA022616
NM_000251.3:c.956A>T