ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827113130
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
576504
ClinVar RCV Id:
RCV000699014
RCV001014017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Glu532Gln
CA366738882
NM_001322005.2:c.1594G>C