ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494128
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_958783.1:p.Ala4208Thr
CA4924000
NM_201381.3:c.12622G>A