ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299385
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.9979088718
Linked Data - NCBI & NCI
ClinVar Allele:
179998
ClinVar RCV:
RCV000160626
RCV000198252
RCV000411135
RCV000491808
RCV000656873
RCV000708828
ClinVar Variation:
182589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln239Arg
CA022091
NM_000251.3:c.716A>G