ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501115
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471626
ClinVar RCV Id:
RCV000526688
RCV000605974
RCV002530081
RCV003133342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Gly2085Ser
CA4926072
NM_201383.3:c.6253G>A