ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208205
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211914
ClinVar RCV Id:
RCV000194194
RCV000513011
RCV001087077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1948Trp
CA208198
NM_000445.4:c.5842C>T