ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830497783
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_958784.1:p.Arg3231His
CA4924885
NM_201382.4:c.9692G>A