ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299505
Gene: MSH6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000170.1:p.Ser65Leu
NM_000179.3:c.194C>T