ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220839
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000723747
RCV001088568
RCV004537313
ClinVar Variation:
93017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Gly3459Ser
CA220836
NM_201378.4:c.10375G>A