ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244525
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177718
RCV000526784
RCV003362714
ClinVar Variation:
196847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala4202Gly
CA244523
NM_201379.3:c.12605C>G