ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827133861
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1913625
ClinVar RCV Id:
RCV002593999
RCV003111582
RCV004007501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg437Pro
CA366739438
NM_001322013.1:c.1310G>C