ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474345
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.904972837
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000463668
RCV000561959
RCV001753886
RCV004000788
ClinVar Variation:
408520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.His466Arg
CA028501
NM_000251.3:c.1397A>G