ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825176345
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_000436.2:p.Ala3907Thr
CA4924281
NM_000445.4:c.11719G>A