ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169553
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.2133693148
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132280
RCV000780435
RCV000800194
RCV001753517
RCV003462042
RCV003998140
ClinVar Variation:
142842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg39Pro
CA017407
NM_000251.3:c.116G>C