ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA337247
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.1070120546
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000197496
RCV000579889
RCV000662894
RCV000780448
RCV001569704
RCV001798671
RCV003997024
ClinVar Variation:
216361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly157Ala
CA038898
NM_000251.3:c.470G>C