ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830493239
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
380359
ClinVar RCV Id:
RCV000435977
RCV000726574
RCV000819333
RCV002524872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala3278Val
CA4924810
NM_201381.3:c.9833C>T