ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474392
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.1578753049
Linked Data - NCBI & NCI
ClinVar Allele:
392888
ClinVar RCV:
RCV000458190
RCV000570881
RCV003470448
ClinVar Variation:
408512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu496Ser
CA16610877
NM_000251.3:c.1487T>C