ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220888
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93053
ClinVar RCV Id:
RCV000078868
RCV000544997
RCV001086335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ser1519Leu
CA220883
NM_201384.3:c.4556C>T