ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134484
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
221705
ClinVar RCV:
RCV000204089
RCV000568777
RCV000662637
RCV000764721
RCV001328413
RCV001753620
RCV003150094
ClinVar Variation:
220740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Pro603Ser
CA348346
NM_001322013.1:c.1807C>T