ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115513
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142257
ClinVar RCV Id:
RCV000131270
RCV000477201
RCV000483100
RCV000662638
RCV000767041
RCV001353427
RCV003492618
RCV003998095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Gly408Asp
CA009586
NM_001322006.2:c.1223G>A