ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830501853
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000347875
RCV000543307
RCV001718569
RCV004021081
RCV004535261
ClinVar Variation:
281590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala2738Val
CA4925398
NM_201383.3:c.8213C>T