ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830476435
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000600621
RCV000874701
RCV001289148
RCV003162735
RCV004533231
ClinVar Variation:
514366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1082Cys
CA4927136
NM_201378.4:c.3244C>T