ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134132
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000708732
RCV001861933
ClinVar Variation:
584544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ala511Thr
CA366737988
NM_001322013.1:c.1531G>A