ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827123713
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480298
ClinVar RCV Id:
RCV000569664
RCV000662639
RCV000629864
RCV001356078
RCV001821663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ser481Asn
CA045499
NM_001322008.2:c.1442G>A