ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025831
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000197213
RCV000216807
RCV000487350
RCV001160657
RCV001192581
RCV003997027
ClinVar Variation:
216450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.His479Asp
CA043547
NM_001322014.1:c.1435C>G