ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502294
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2949164
ClinVar RCV Id:
RCV003801890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ile3147Met
CA372509487
NM_201383.3:c.9441C>G