ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480904
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383828
ClinVar RCV Id:
RCV000820018
RCV000443829
RCV003258811
RCV003129858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ser3749Leu
CA4924391
NM_201378.4:c.11246C>T