ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830477988
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
490643
ClinVar RCV:
RCV000593349
RCV001860181
RCV004024759
ClinVar Variation:
499219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1967Gln
CA4926177
NM_201378.4:c.5900G>A