ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830493815
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383010
ClinVar RCV Id:
RCV000437288
RCV001040596
RCV001509353
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala3848Thr
CA4924281
NM_201381.3:c.11542G>A