ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331392
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.0895454412
Linked Data - NCBI & NCI
ClinVar Allele:
96273
ClinVar RCV:
RCV000662761
RCV000708715
RCV001218170
RCV001703978
RCV003317078
RCV003997154
ClinVar Variation:
90798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln61Pro
CA019414
NM_000251.3:c.182A>C