ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830496384
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_958784.1:p.Val1990Met
CA4926163
NM_201382.4:c.5968G>A