ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864291
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237924
ClinVar RCV Id:
RCV000226233
RCV000772142
RCV001535628
RCV003998795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Pro221Leu
CA10582522
NM_000535.7:c.662C>T