ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208201
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000194194
RCV000513011
RCV001087077
ClinVar Variation:
211914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1907Trp
CA208198
NM_201378.4:c.5719C>T