ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244258
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000723606
RCV001082916
RCV004020114
RCV004537445
ClinVar Variation:
196817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Asp2836Asn
CA244253
NM_201384.3:c.8506G>A