ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825176898
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
649193
ClinVar RCV Id:
RCV000804070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala4526Val
CA4923780
NM_000445.4:c.13577C>T