ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671454
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.3518180472
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000573240
RCV001320849
RCV003459356
ClinVar Variation:
483663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.His46Tyr
CA346728894
NM_000251.3:c.136C>T