ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094975
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.4164011442
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000697263
RCV001184535
RCV001731362
RCV001800375
RCV003452948
ClinVar Variation:
91125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu175Pro
CA021302
NM_000251.3:c.524T>C