ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827122799
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135934
ClinVar RCV Id:
RCV000123075
RCV000572231
RCV002466437
RCV003997413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Met347Val
CA009542
NM_001322008.2:c.1039A>G