ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471584
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.2071493381
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458857
RCV000568213
RCV000759835
RCV003449128
RCV004000775
ClinVar Variation:
408460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val147Ile
CA038750
NM_000251.3:c.439G>A