ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134042
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2447018
ClinVar RCV Id:
RCV003388173
RCV003176284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Gly489Ala
CA366738128
NM_001322013.1:c.1466G>C