ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825175811
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487327
ClinVar RCV Id:
RCV000576198
RCV003133382
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3375Gln
CA4924775
NM_000445.4:c.10124G>A