ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129571
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
820348
ClinVar RCV Id:
RCV001013714
RCV001047146
RCV001539689
RCV004004527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Glu331Lys
CA045862
NM_001322011.2:c.991G>A