ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345403
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.9998227237
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000220086
RCV000483333
RCV000524371
RCV000765672
RCV002265597
RCV003389040
RCV003997156
ClinVar Variation:
90855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro670Leu
CA019790
NM_000251.3:c.2009C>T