ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830501718
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000399731
RCV000696993
ClinVar Variation:
290728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2585Trp
CA4925528
NM_201383.3:c.7753C>T