ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827119392
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3232001
ClinVar RCV Id:
RCV004518716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Tyr601Asn
CA366737956
NM_001322007.2:c.1801T>A