ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825173241
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514366
ClinVar RCV Id:
RCV000600621
RCV000874701
RCV001289148
RCV003162735
RCV004533231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1123Cys
CA4927136
NM_000445.4:c.3367C>T