ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827120280
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1472619
ClinVar RCV Id:
RCV001969319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Asn265Asp
CA366742785
NM_001322008.2:c.793A>G