ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864643
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237886
ClinVar RCV Id:
RCV000227437
RCV000479471
RCV000570329
RCV002288911
RCV003998786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Thr485Met
CA043685
NM_000535.7:c.1454C>T