ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474420
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.3383074106
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000235347
RCV000566599
ClinVar Variation:
246000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Tyr521Phe
CA10584215
NM_000251.3:c.1562A>T