ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825173139
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000444396
RCV000686363
RCV000726447
RCV003168674
ClinVar Variation:
387220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu1015Gln
CA4927274
NM_000445.4:c.3043G>C