ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830480194
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284565
ClinVar RCV Id:
RCV000725484
RCV003243040
RCV004543049
RCV001078905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg3217His
CA4924885
NM_201378.4:c.9650G>A