ClinGen Allele Registry
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Canonical Allele Identifier:
PA658737550
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.7157827805
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000579738
RCV003237947
RCV003758849
RCV003886417
ClinVar Variation:
489908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro349Ser
CA346733218
NM_000251.3:c.1045C>T