ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830507194
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000430172
RCV000727107
RCV000807313
ClinVar Variation:
387299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ala3386Val
CA4924737
NM_201384.3:c.10157C>T