ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827119091
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
574850
ClinVar RCV Id:
RCV000696896
RCV000775360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ala520Thr
CA045730
NM_001322007.2:c.1558G>A