ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480372
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487327
ClinVar RCV Id:
RCV000576198
RCV003133382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg3334Gln
CA4924775
NM_201378.4:c.10001G>A