ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207243
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211915
ClinVar RCV Id:
RCV000193631
RCV000724939
RCV001088606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala2132Thr
CA207236
NM_000445.4:c.6394G>A