ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830507918
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281685
ClinVar RCV Id:
RCV000300593
RCV001087007
RCV004021085
RCV004542991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg4159Cys
CA4924076
NM_201384.3:c.12475C>T