ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244500
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000712767
RCV001087645
RCV002516748
ClinVar Variation:
196844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala3159Thr
CA244496
NM_201382.4:c.9475G>A