ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026076
Gene: PMS2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001308943.1:p.Lys647Ter
NM_001322014.1:c.[1938del;1940A>T;1942T>A...
NM_001322014.1:c.1939A>T