ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827120054
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160897
RCV000531977
RCV000776509
ClinVar Variation:
182810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Arg63Cys
CA012217
NM_001322008.2:c.187C>T