ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487975
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497019
ClinVar RCV Id:
RCV000595061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ser4475Pro
CA372474202
NM_201379.3:c.13423T>C