ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827112837
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000569664
RCV000629864
RCV000662639
RCV001356078
RCV001821663
ClinVar Variation:
480298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Ser452Asn
CA045499
NM_001322005.2:c.1355G>A