ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825174755
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_000436.2:p.Arg2393Gln
CA4925761
NM_000445.4:c.7178G>A