ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830504493
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387220
ClinVar RCV Id:
RCV000444396
RCV000686363
RCV000726447
RCV003168674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Glu988Gln
CA4927274
NM_201384.3:c.2962G>C