ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481612
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_958780.1:p.Ala4247Thr
CA4923981
NM_201378.4:c.12739G>A