ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331407
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.055450835
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000524367
RCV000583770
RCV001588896
RCV003460715
ClinVar Variation:
90815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala636Val
CA019539
NM_000251.3:c.1907C>T