ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357558
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.9611473077
Linked Data - NCBI & NCI
ClinVar Allele:
221237
ClinVar RCV:
RCV000205416
RCV000221565
RCV000235312
RCV000663070
RCV001356036
RCV003997576
ClinVar Variation:
219668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu602Val
CA031475
NM_000251.3:c.1804C>G