ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242926
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196105
ClinVar RCV Id:
RCV000176847
RCV000547452
RCV000724976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Val1271Gly
CA242919
NM_000445.4:c.3812T>G