ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827127690
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002424287
ClinVar Variation:
1785975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Ala515Asp
CA366737986
NM_001322010.2:c.1544C>A