ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669297
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000518288
RCV000726855
RCV001081655
ClinVar Variation:
448065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg1457Cys
CA4926829
NM_201380.4:c.4369C>T