ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201977
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176531
RCV000648652
RCV001697162
RCV003165369
RCV004537405
ClinVar Variation:
195857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg1130Gln
CA201975
NM_201380.4:c.3389G>A