ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287452
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127645
ClinVar RCV Id:
RCV000115529
RCV001854553
RCV002354293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser129Phe
CA021109
NM_000251.3:c.386C>T