ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244278
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177690
RCV000537688
RCV001704847
ClinVar Variation:
196819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3527Cys
CA244271
NM_000445.4:c.10579C>T