ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830492355
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000606128
RCV001860281
ClinVar Variation:
509844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala2458Pro
CA372525148
NM_201381.3:c.7372G>C