ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487760
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596978
RCV001087492
RCV004538038
ClinVar Variation:
471534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala4239Thr
CA4923981
NM_201379.3:c.12715G>A