ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830476485
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471576
ClinVar RCV Id:
RCV000556916
RCV001722504
RCV004024177
RCV004543191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Thr1131Met
CA4927067
NM_201378.4:c.3392C>T