ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864694
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185185
ClinVar RCV Id:
RCV000164554
RCV000200307
RCV000411039
RCV000486349
RCV000515358
RCV000781744
RCV001798585
RCV003338434
RCV003995349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ala520Val
CA009861
NM_000535.7:c.1559C>T