ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669506
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471637
ClinVar RCV Id:
RCV000529959
RCV000609012
RCV000727816
RCV004024181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Ala2418Thr
CA4925834
NM_201380.4:c.7252G>A