ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208206
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211914
ClinVar RCV Id:
RCV000194194
RCV000513011
RCV001087077
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg2058Trp
CA208198
NM_201380.4:c.6172C>T