ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335730
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.1120843698
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000195508
RCV000581797
RCV001770148
RCV003114359
RCV003997016
ClinVar Variation:
216347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Met67Val
CA032335
NM_000251.3:c.199A>G