ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830503375
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000648536
RCV000725329
ClinVar Variation:
283767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala4244Thr
CA4924000
NM_201383.3:c.12730G>A