ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827114014
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185474
ClinVar RCV Id:
RCV000164904
RCV000198290
RCV000410641
RCV000482199
RCV002247569
RCV003995377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Gln30Arg
CA013191
NM_001322006.2:c.89A>G