ClinGen Allele Registry
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Canonical Allele Identifier:
PA331592
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
3.4518521232
Linked Data - NCBI & NCI
ClinVar Allele:
96574
ClinVar RCV:
RCV000821319
RCV001022532
RCV001358250
RCV003452941
ClinVar Variation:
91099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly149Asp
CA021170
NM_000251.3:c.446G>A