ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830498785
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471534
ClinVar RCV Id:
RCV001087492
RCV000596978
RCV004538038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala4261Thr
CA4923981
NM_201382.4:c.12781G>A