ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025546
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
819927
ClinVar RCV Id:
RCV001012879
RCV001249989
RCV001304292
RCV004004520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Leu58Phe
CA366744919
NM_001322014.1:c.172C>T