ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830492910
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
510766
ClinVar RCV Id:
RCV000611393
RCV001220720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Asn2992Thr
CA372514030
NM_201381.3:c.8975A>C