ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472278
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.5898909057
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000214470
RCV000819833
RCV003156236
ClinVar Variation:
232131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser271Tyr
CA10577954
NM_000251.3:c.812C>A