ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487737
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283767
ClinVar RCV Id:
RCV000648536
RCV000725329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala4218Thr
CA4924000
NM_201379.3:c.12652G>A