ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827113974
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216461
ClinVar RCV Id:
RCV000198784
RCV000218260
RCV000410798
RCV000781747
RCV003401082
RCV001562874
RCV003997030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Arg20Trp
CA050487
NM_001322006.2:c.58C>T