ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830477692
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471610
ClinVar RCV Id:
RCV000549715
RCV001591253
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1854Trp
CA4926305
NM_201378.4:c.5560C>T