ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825176886
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435046
ClinVar RCV Id:
RCV003132038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Gly4519Asp
CA372474294
NM_000445.4:c.13556G>A