ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827113278
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000076843
RCV000115674
RCV000144654
RCV000223542
RCV000524457
RCV002298464
RCV003149756
RCV003452990
ClinVar Variation:
91328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Glu570Lys
CA010854
NM_001322005.2:c.1708G>A