ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025631
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115708
RCV000168085
RCV000212854
RCV003315640
RCV003407498
RCV003997293
ClinVar Variation:
127799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg294Trp
CA013136
NM_001322014.1:c.880C>T