ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830493798
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000556602
RCV000596912
RCV003343915
ClinVar Variation:
471522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg3834His
CA4924299
NM_201381.3:c.11501G>A