ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864569
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140937
ClinVar RCV Id:
RCV000129211
RCV000232320
RCV000486562
RCV003235051
RCV003997486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Thr430Ala
CA009484
NM_000535.7:c.1288A>G