ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025567
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182808
ClinVar RCV Id:
RCV000168187
RCV000567463
RCV000656942
RCV000663221
RCV001316571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Gly72Glu
CA010938
NM_001322014.1:c.215G>A