ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827108712
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003593710
ClinVar Variation:
2751312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Lys571_Glu575del
CA2697553871
NM_001322004.2:c.1712_1726del