ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244467
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000177711
RCV000724581
RCV000799044
ClinVar Variation:
196840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu2900Lys
CA244460
NM_000445.4:c.8698G>A