ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830497955
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514223
ClinVar RCV Id:
RCV001054285
RCV001697928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala3391Val
CA4924731
NM_201382.4:c.10172C>T