ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458247
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_958782.1:p.Ala565Val
CA4928029
NM_201380.4:c.1694C>T