ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345405
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.1361735917
Linked Data - NCBI & NCI
ClinVar Allele:
96356
ClinVar RCV:
RCV000076383
RCV000492029
RCV000501546
RCV001034643
RCV003452886
ClinVar Variation:
90881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro696Leu
CA019979
NM_000251.3:c.2087C>T