ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830485877
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000533256
RCV000601732
RCV003133344
ClinVar Variation:
471645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg2435Cys
CA4925674
NM_201379.3:c.7303C>T