ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299319
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.4487946316
Linked Data - NCBI & NCI
ClinVar Allele:
179980
ClinVar RCV:
RCV000160589
RCV000559215
RCV002390391
RCV003325191
RCV003998472
ClinVar Variation:
182561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro5Leu
CA018467
NM_000251.3:c.14C>T