ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830483376
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436331
ClinVar RCV Id:
RCV000502378
RCV000725600
RCV001085255
RCV003278854
RCV004535607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala1002Thr
CA4927240
NM_201379.3:c.3004G>A