ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174411
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000648659
RCV003133459
ClinVar Variation:
539036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg2115Trp
CA4926062
NM_000445.4:c.6343C>T