ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825174266
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000430720
RCV000542752
RCV003133258
ClinVar Variation:
383543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg2008Trp
CA4926178
NM_000445.4:c.6022C>T