ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825175477
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala3083Asp
CA4925052
NM_000445.4:c.9248C>A