ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827124799
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219450
ClinVar RCV Id:
RCV000204145
RCV001013406
RCV001775669
RCV003462361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Pro482Ser
CA348389
NM_001322009.2:c.1444C>T