ClinGen Allele Registry
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Canonical Allele Identifier:
PA192495
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.0034816757
Linked Data - NCBI & NCI
ClinVar Allele:
96157
ClinVar RCV:
RCV000076178
RCV000165088
RCV000412350
RCV000486935
RCV000524345
RCV000781557
RCV001030703
RCV001354505
RCV002513806
RCV003153355
ClinVar Variation:
90682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro5Gln
CA018457
NM_000251.3:c.14C>A