ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812039
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497040
ClinVar RCV Id:
RCV000594258
RCV000688855
RCV000725806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Ala2491Val
CA4925770
NM_201380.4:c.7472C>T