ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825175837
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478626
ClinVar RCV Id:
RCV000525646
RCV000585576
RCV000610926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3404Gln
CA4924742
NM_000445.4:c.10211G>A