ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244578
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000540878
RCV000725165
RCV002516749
ClinVar Variation:
196853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala4339Thr
CA244577
NM_201381.3:c.13015G>A