ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169070
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-6.0080433205
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132012
RCV000629677
RCV001030712
RCV003129784
RCV003998127
ClinVar Variation:
142665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro616Ser
CA019428
NM_000251.3:c.1846C>T