ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826462982
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000590002
RCV001024159
RCV001853977
RCV004002418
ClinVar Variation:
495772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Gln117Lys
CA346730870
NM_001258281.1:c.349C>A