ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025571
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411085
ClinVar RCV Id:
RCV000477451
RCV000481770
RCV000776176
RCV002268089
RCV004001885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Glu77Ala
CA047490
NM_001322014.1:c.230A>C