ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830484730
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497114
ClinVar RCV Id:
RCV000727203
RCV001079937
RCV004024702
RCV004543313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala1839Val
CA4926316
NM_201379.3:c.5516C>T