ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114209
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2831111
ClinVar RCV Id:
RCV003758262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Glu77Gly
CA366744794
NM_001322006.2:c.230A>G