ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471496
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.0703754445
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000235804
RCV001020082
RCV001211169
ClinVar Variation:
246010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser112Phe
CA10584205
NM_000251.3:c.335C>T