ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299305
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.9933464052
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160581
RCV000203771
RCV000215764
RCV000780458
ClinVar Variation:
182557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu380Ser
CA017337
NM_000251.3:c.1139T>C