ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830506198
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
539032
ClinVar RCV Id:
RCV000648651
RCV003129967
RCV004544882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg2447Cys
CA4925684
NM_201384.3:c.7339C>T