ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174741
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000594258
RCV000688855
RCV000725806
ClinVar Variation:
497040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala2381Val
CA4925770
NM_000445.4:c.7142C>T