ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830479067
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000648651
RCV003129967
RCV004544882
ClinVar Variation:
539032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2433Cys
CA4925684
NM_201378.4:c.7297C>T