ClinGen Allele Registry
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Canonical Allele Identifier:
PA287410
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.4584140895
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115497
RCV000206195
RCV000574856
RCV000663163
RCV001193851
RCV003997268
ClinVar Variation:
127628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln402Lys
CA017489
NM_000251.3:c.1204C>A