ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830479789
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445189
RCV001215225
RCV003133257
ClinVar Variation:
383363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2957Gln
CA4925140
NM_201378.4:c.8870G>A