ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458259
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432425
ClinVar RCV Id:
RCV000497554
RCV000692355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Ala722Thr
CA187621314
NM_201380.4:c.2164G>A