ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830499982
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000300309
RCV001088726
RCV004021109
ClinVar Variation:
282499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Pro1127Leu
CA4927108
NM_201383.3:c.3380C>T