ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331614
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.8687309246
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000570883
RCV000627693
RCV001137124
RCV003231115
RCV003997176
ClinVar Variation:
91119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg171Lys
CA021254
NM_000251.3:c.512G>A