ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134126
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651602
ClinVar RCV Id:
RCV000807000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.His510Pro
CA366737994
NM_001322013.1:c.1529A>C