ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827121558
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2178657
ClinVar RCV Id:
RCV002591486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Met744Val
CA366734820
NM_001322008.2:c.2230A>G