ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115869
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212593
ClinVar RCV:
RCV000195742
RCV000775362
RCV001546990
ClinVar Variation:
216453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Asp496Asn
CA044914
NM_001322006.2:c.1486G>A