ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331231
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.3266395955
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000794953
RCV001010013
RCV001538801
RCV003997142
ClinVar Variation:
90556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro385Leu
CA017372
NM_000251.3:c.1154C>T