ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA154435
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129932
ClinVar RCV Id:
RCV000117953
RCV000558023
RCV000725963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Gly45Ser
CA154434
NM_000445.4:c.133G>A