ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827110430
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2677921
ClinVar RCV Id:
RCV003463323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Met715Thr
CA366734817
NM_001322004.2:c.2144T>C