ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825176847
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361801
ClinVar RCV Id:
RCV001931967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg4479Cys
CA4923832
NM_000445.4:c.13435C>T