ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA189557
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.1272021175
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000163932
RCV000554840
RCV001267891
ClinVar Variation:
184645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu595Arg
CA019291
NM_000251.3:c.1784T>G