ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827117324
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000219855
RCV000467401
RCV004020705
ClinVar Variation:
234572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Lys73del
CA10577354
NM_001322007.2:c.217_219del