ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830493688
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
507049
ClinVar RCV Id:
RCV000608326
RCV001365293
RCV002531166
RCV003133396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala3732Val
CA4924389
NM_201381.3:c.11195C>T