ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579918730
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2567769
ClinVar RCV Id:
RCV003311420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr594Ser
CA346728290
NM_000251.3:c.1780A>T