ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830491552
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000546115
RCV001561642
ClinVar Variation:
471608
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala1804Val
CA4926342
NM_201381.3:c.5411C>T