ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220945
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93069
ClinVar RCV Id:
RCV000078884
RCV000554019
RCV002514388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Ala2114Val
CA220937
NM_201380.4:c.6341C>T