ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830486081
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290728
ClinVar RCV Id:
RCV000696993
RCV000399731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg2559Trp
CA4925528
NM_201379.3:c.7675C>T