ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244404
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196833
ClinVar RCV Id:
RCV000177704
RCV001218004
RCV003278679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3430Trp
CA244397
NM_000445.4:c.10288C>T