ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169706
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.7378355305
Linked Data - NCBI & NCI
ClinVar Allele:
152609
ClinVar RCV:
RCV000132363
RCV000629706
RCV003998144
ClinVar Variation:
142895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro196Ser
CA021484
NM_000251.3:c.586C>T