ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331572
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.2942554703
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478164
RCV000491016
RCV000662774
RCV001232251
RCV003997171
ClinVar Variation:
91061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Tyr103Cys
CA021001
NM_000251.3:c.308A>G