ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501472
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
509233
ClinVar RCV Id:
RCV000610650
RCV001362332
RCV003129935
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2370Gln
CA4925761
NM_201383.3:c.7109G>A