ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215682
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.3393280738
Linked Data - NCBI & NCI
ClinVar Allele:
50088
ClinVar RCV:
RCV000034557
RCV002433492
ClinVar Variation:
41649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln10Lys
CA020973
NM_000251.3:c.28C>A