ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830504929
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497109
ClinVar RCV Id:
RCV000591344
RCV001490049
RCV003352932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg1416His
CA4926721
NM_201384.3:c.4247G>A