ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244476
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177712
RCV000537168
RCV003165372
ClinVar Variation:
196841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3044Trp
CA244469
NM_000445.4:c.9130C>T