ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129412
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000563124
RCV000629896
RCV004001198
ClinVar Variation:
486922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Asp288Gly
CA366739812
NM_001322011.2:c.863A>G