ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827126627
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185424
ClinVar RCV Id:
RCV000164844
RCV000206128
RCV000433523
RCV000987833
RCV002485018
RCV001358227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Arg240His
CA009478
NM_001322010.2:c.719G>A