ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830482878
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281275
ClinVar RCV Id:
RCV000362885
RCV000724833
RCV001083617
RCV004542976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Thr630Ile
CA4927778
NM_201379.3:c.1889C>T