ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138221
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000199090
RCV000221963
RCV000486619
RCV000780620
RCV000987826
ClinVar Variation:
216451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Tyr416His
CA044339
NM_001322015.1:c.1246T>C