ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025782
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000123075
RCV000572231
RCV002466437
RCV003997413
ClinVar Variation:
135934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Met453Val
CA009542
NM_001322014.1:c.1357A>G