ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481978
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288999
ClinVar RCV Id:
RCV000402032
RCV000726265
RCV001039102
RCV003165766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Thr4477Ala
CA4923795
NM_201378.4:c.13429A>G