ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474172
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.8616658084
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000214618
RCV000409794
RCV000480571
RCV000546544
RCV000761006
RCV003387810
ClinVar Variation:
232371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg382Cys
CA027079
NM_000251.3:c.1144C>T