ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138588
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
646506
ClinVar RCV Id:
RCV000800803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Asn509del
CA915944863
NM_001322015.1:c.1527_1529del