ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825172878
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_000436.2:p.Thr679Ile
CA4927778
NM_000445.4:c.2036C>T