ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827120901
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1420491
ClinVar RCV Id:
RCV001914321
RCV002423055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Gly614Glu
CA366737868
NM_001322008.2:c.1841G>A