ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244260
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196817
ClinVar RCV Id:
RCV000723606
RCV001082916
RCV004537445
RCV004020114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Asp2863Asn
CA244253
NM_000445.4:c.8587G>A