ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830486216
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281590
ClinVar RCV Id:
RCV000347875
RCV000543307
RCV001718569
RCV004535261
RCV004021081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala2712Val
CA4925398
NM_201379.3:c.8135C>T