ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827139294
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91340
ClinVar RCV Id:
RCV000162455
RCV000215298
RCV000524466
RCV000590372
RCV000764720
RCV003153358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Arg696Trp
CA011412
NM_001322015.1:c.2086C>T