ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA151476
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.271842902
Linked Data - NCBI & NCI
ClinVar Allele:
50085
ClinVar RCV:
RCV000034554
RCV000076286
RCV000115511
RCV000148641
RCV000200985
RCV000659882
RCV000765668
RCV001081309
RCV003149607
ClinVar Variation:
41646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Asn596Ser
CA019304
NM_000251.3:c.1787A>G