ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502486
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000435977
RCV000726574
RCV000819333
RCV002524872
ClinVar Variation:
380359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3314Val
CA4924810
NM_201383.3:c.9941C>T