ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA357396
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.09257524
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000204365
RCV000478447
RCV000570070
RCV001193995
RCV003150090
RCV003462360
RCV003997558
RCV004530216
ClinVar Variation:
219420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr541Ile
CA348608
NM_000251.3:c.1622C>T