ClinGen Allele Registry
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Canonical Allele Identifier:
PA658671619
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9581453256
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000572927
RCV001575414
RCV001858103
RCV003320690
RCV003459289
RCV004000847
ClinVar Variation:
479788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly108Val
CA346729713
NM_000251.3:c.323G>T