ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480547
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383675
ClinVar RCV Id:
RCV001042687
RCV001703823
RCV002525364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Val3473Met
CA4924645
NM_201378.4:c.10417G>A