ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830491737
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383543
ClinVar RCV Id:
RCV000430720
RCV000542752
RCV003133258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg1949Trp
CA4926178
NM_201381.3:c.5845C>T