ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827126807
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000166727
RCV000630121
RCV002466458
RCV003995528
ClinVar Variation:
187042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Glu286Lys
CA009646
NM_001322010.2:c.856G>A