ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827112925
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000168273
RCV000486825
RCV000574365
RCV003468829
RCV003995619
ClinVar Variation:
188287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Lys475Glu
CA010309
NM_001322005.2:c.1423A>G