ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331337
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.2141396217
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076214
RCV000491028
RCV000985797
RCV003452846
RCV003593895
ClinVar Variation:
90717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser554Gly
CA018814
NM_000251.3:c.1660A>G