ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827124010
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000168211
RCV000220002
RCV003318558
RCV003995612
ClinVar Variation:
188248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.His528Arg
CA010440
NM_001322008.2:c.1583A>G