ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129452
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188287
ClinVar RCV Id:
RCV000168273
RCV000486825
RCV000574365
RCV003468829
RCV003995619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Lys299Glu
CA010309
NM_001322011.2:c.895A>G