ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827130487
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233592
ClinVar RCV Id:
RCV000219397
RCV000480173
RCV000541065
RCV001249242
RCV001798722
RCV003998566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Pro27Ala
CA10578688
NM_001322012.1:c.79C>G