ClinGen Allele Registry
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Canonical Allele Identifier:
PA163627
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.8542048082
Linked Data - NCBI & NCI
ClinVar Allele:
150524
ClinVar RCV:
RCV000128997
RCV000228319
RCV000235651
RCV000759122
RCV001269353
RCV003333736
RCV003997470
RCV004532540
ClinVar Variation:
140810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro259Ser
CA022230
NM_000251.3:c.775C>T