ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244318
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196824
ClinVar RCV Id:
RCV000177695
RCV001083840
RCV000724010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Glu4042Lys
CA244316
NM_201379.3:c.12124G>A