ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826464524
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000490580
RCV001856915
RCV002404286
ClinVar Variation:
427602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Leu490Trp
CA346728044
NM_001258281.1:c.1469T>G