ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864689
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219612
ClinVar RCV Id:
RCV000206422
RCV000213296
RCV000587309
RCV000765957
RCV001160656
RCV003997572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Glu518Lys
CA044318
NM_000535.7:c.1552G>A