ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244405
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196833
ClinVar RCV Id:
RCV000177704
RCV001218004
RCV003278679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg3540Trp
CA244397
NM_201380.4:c.10618C>T