ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160865
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.8125040344
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000121557
RCV000168363
RCV000410801
RCV000512708
RCV000561626
RCV003997346
ClinVar Variation:
134840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala2Val
CA021548
NM_000251.3:c.5C>T