ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA154620
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129956
ClinVar RCV Id:
RCV000117977
RCV000224341
RCV001080370
RCV002490804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg2649Gln
CA154618
NM_201379.3:c.7946G>A