ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134505
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000162455
RCV000215298
RCV000524466
RCV000590372
RCV000764720
RCV003153358
ClinVar Variation:
91340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg608Trp
CA011412
NM_001322013.1:c.1822C>T