ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827129620
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231057
ClinVar RCV Id:
RCV000215176
RCV001244380
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Glu345Lys
CA10578657
NM_001322011.2:c.1033G>A