ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830479868
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389069
ClinVar RCV Id:
RCV000434185
RCV000547493
RCV004022439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Asn3010Ser
CA4925087
NM_201378.4:c.9029A>G