ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474437
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.0845715288
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000572859
RCV000791418
RCV000986674
ClinVar Variation:
408539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val532Ala
CA029661
NM_000251.3:c.1595T>C