ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830486408
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497155
ClinVar RCV Id:
RCV000595740
RCV001853999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala2890Val
CA187611776
NM_201379.3:c.8669C>T