ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579919416
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.3615922747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala636Ser
CA346728616
NM_000251.3:c.1906G>T