ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827103031
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411040
ClinVar RCV Id:
RCV000466147
RCV001016024
RCV002481461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Asn727_Ter728insGlyPro
CA16612251
NM_001322003.2:c.2182T>G