ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827120414
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480353
ClinVar RCV Id:
RCV000569527
RCV000629904
RCV001755926
RCV004000894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ala433Val
CA044643
NM_001322008.2:c.1298C>T