ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827123076
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142960
ClinVar RCV Id:
RCV000132452
RCV000214828
RCV000226690
RCV000411483
RCV000656944
RCV000708988
RCV003390826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Asp193Gly
CA013395
NM_001322009.2:c.578A>G