ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827112798
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1061813
ClinVar RCV Id:
RCV001371463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Lys442Met
CA366740141
NM_001322005.2:c.1325A>T