ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825173223
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_000436.2:p.Gln1103Arg
CA4927166
NM_000445.4:c.3308A>G