ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830503983
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000263573
RCV001088725
RCV004543102
ClinVar Variation:
287387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ala428Val
CA4928029
NM_201384.3:c.1283C>T