ClinGen Allele Registry
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Canonical Allele Identifier:
PA167938
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.8655653592
Linked Data - NCBI & NCI
ClinVar Allele:
151993
180014
ClinVar RCV:
RCV000131303
RCV000160591
RCV000235175
RCV000548522
RCV000823121
RCV001137232
RCV003315905
RCV003998473
RCV004544469
ClinVar Variation:
142279
182563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln510His
CA018560
NM_000251.3:c.1530G>C
CA018566
NM_000251.3:c.1530G>T