ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827132847
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237879
ClinVar RCV Id:
RCV000226146
RCV000481764
RCV000569779
RCV001162267
RCV003479070
RCV003998785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Val176Ile
CA041931
NM_001322013.1:c.526G>A