ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830479017
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284510
ClinVar RCV Id:
RCV000725470
RCV000819705
RCV004543046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2393Gln
CA4925722
NM_201378.4:c.7178G>A