ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830500995
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000342524
RCV000648497
RCV001808730
ClinVar Variation:
284101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Val1994Met
CA4926163
NM_201383.3:c.5980G>A