ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502099
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
369769
ClinVar RCV:
RCV000445189
RCV001215225
RCV003133257
ClinVar Variation:
383363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2975Gln
CA4925140
NM_201383.3:c.8924G>A