ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201983
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195857
ClinVar RCV Id:
RCV000176531
RCV000648652
RCV001697162
RCV003165369
RCV004537405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg997Gln
CA201975
NM_201383.3:c.2990G>A