ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487945
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484641
ClinVar RCV Id:
RCV002005953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ser4454Ile
CA372474498
NM_201379.3:c.13361G>T