ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830484111
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379729
ClinVar RCV Id:
RCV000436465
RCV001315527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg1507His
CA16605449
NM_201379.3:c.4520G>A