ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830498992
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435046
ClinVar RCV Id:
RCV003132038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Gly4492Asp
CA372474294
NM_201382.4:c.13475G>A