ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825175567
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000593219
RCV000764748
RCV001241498
ClinVar Variation:
497013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala3163Thr
CA4924979
NM_000445.4:c.9487G>A