ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242176
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195656
ClinVar RCV Id:
RCV000712729
RCV001089444
RCV004539634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Val988Met
CA242168
NM_201380.4:c.2962G>A