ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830503681
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390440
ClinVar RCV Id:
RCV000422312
RCV000705982
RCV000725526
RCV004022470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Val4550Met
CA4923741
NM_201383.3:c.13648G>A