ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025517
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167349
RCV000229343
RCV000759911
RCV000987853
RCV002478518
RCV003150031
RCV003995585
ClinVar Variation:
187605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ala38Val
CA009226
NM_001322014.1:c.113C>T