ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211664
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.1857209585
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000148630
RCV000218562
RCV000482094
RCV000627720
RCV003466964
RCV003997147
ClinVar Variation:
90660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser473Leu
CA018254
NM_000251.3:c.1418C>T