ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220942
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000078884
RCV000554019
RCV002514388
ClinVar Variation:
93069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ala1977Val
CA220937
NM_201384.3:c.5930C>T