ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658735748
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.725150976
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000584099
RCV002530801
RCV003459444
ClinVar Variation:
491829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val17Ile
CA346728561
NM_000251.3:c.49G>A