ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827113106
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1783828
ClinVar RCV Id:
RCV002423700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Glu526Ala
CA366738968
NM_001322005.2:c.1577A>C