ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827130384
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002425987
ClinVar Variation:
1793202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Gly546Cys
CA366734747
NM_001322011.2:c.1636G>T