ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827111795
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2734969
ClinVar RCV Id:
RCV003595603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Arg180Leu
CA366743144
NM_001322005.2:c.539G>T