ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827139225
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969752
ClinVar RCV Id:
RCV001245170
RCV002447214
RCV003462823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Asp679Gly
CA047740
NM_001322015.1:c.2036A>G