ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864761
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186044
ClinVar RCV Id:
RCV000165566
RCV000513405
RCV000662642
RCV001193214
RCV003150024
RCV003483538
RCV003995430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ala572Thr
CA010143
NM_000535.7:c.1714G>A