ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025983
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000216140
RCV001322223
ClinVar Variation:
231764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Lys577Gln
CA10578663
NM_001322014.1:c.1729A>C