ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174507
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000601790
RCV000819372
RCV003488728
ClinVar Variation:
516477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Leu2184Val
CA4925977
NM_000445.4:c.6550C>G