ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645473375
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.1055899292
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480250
RCV001355929
RCV003485590
RCV003766712
ClinVar Variation:
422795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro349Thr
CA16617573
NM_000251.3:c.1045C>A