ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474191
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.1891832733
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000227304
RCV000566323
RCV000662565
RCV000780444
RCV001589170
RCV003998752
ClinVar Variation:
237359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala391Thr
CA10582008
NM_000251.3:c.1171G>A