ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864806
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484288
ClinVar RCV Id:
RCV000573666
RCV000629879
RCV001797751
RCV004001077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Lys614Arg
CA045684
NM_000535.7:c.1841A>G