ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830486383
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281280
ClinVar RCV Id:
RCV000335436
RCV000724835
RCV001083618
RCV004021074
RCV004542978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Lys2865Arg
CA4925226
NM_201379.3:c.8594A>G