ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825175629
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497042
ClinVar RCV Id:
RCV000595300
RCV000703595
RCV004024699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Gly3220Cys
CA4924925
NM_000445.4:c.9658G>T