ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830496914
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000725470
RCV000819705
RCV004543046
ClinVar Variation:
284510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg2407Gln
CA4925722
NM_201382.4:c.7220G>A