ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830487646
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000300593
RCV001087007
RCV004021085
RCV004542991
ClinVar Variation:
281685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg4137Cys
CA4924076
NM_201379.3:c.12409C>T