ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160871
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.6943751699
Linked Data - NCBI & NCI
ClinVar Allele:
138581
ClinVar RCV:
RCV000121560
RCV000472209
RCV000569681
RCV001588967
RCV003460853
ClinVar Variation:
134842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile544Thr
CA018761
NM_000251.3:c.1631T>C