ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129800
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2786328
ClinVar RCV Id:
RCV003760014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Asp393Asn
CA366737978
NM_001322011.2:c.1177G>A