ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830482539
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287387
ClinVar RCV Id:
RCV000263573
RCV001088725
RCV004543102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala406Val
CA4928029
NM_201379.3:c.1217C>T