ClinGen Allele Registry
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Canonical Allele Identifier:
PA244060
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
193920
ClinVar RCV:
RCV000177623
RCV001088197
ClinVar Variation:
196759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg1983His
CA244056
NM_201382.4:c.5948G>A