ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827122217
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455732
ClinVar RCV Id:
RCV000547672
RCV001025376
RCV001290677
RCV001775843
RCV004003767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Gly83Ser
CA366743913
NM_001322009.2:c.247G>A