ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830476413
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000608122
RCV000946059
ClinVar Variation:
512266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Gln1062Arg
CA4927166
NM_201378.4:c.3185A>G