ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026024
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186080
ClinVar RCV:
RCV000168273
RCV000486825
RCV000574365
RCV003468829
RCV003995619
ClinVar Variation:
188287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Lys610Glu
CA010309
NM_001322014.1:c.1828A>G