ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827124054
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186045
ClinVar RCV Id:
RCV000165567
RCV000546976
RCV000662635
RCV003995431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Lys330Arg
CA009618
NM_001322009.2:c.989A>G