ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114052
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001325754
RCV002456455
ClinVar Variation:
1025441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ala38Glu
CA366745040
NM_001322006.2:c.113C>A