ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119373
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127773
ClinVar RCV Id:
RCV000115673
RCV000456314
RCV000587414
RCV000662645
RCV000855604
RCV002505034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Thr597Met
CA010829
NM_001322007.2:c.1790C>T