ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864999
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_000526.2:p.Arg799Trp
CA011412
NM_000535.7:c.2395C>T