ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244530
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196847
ClinVar RCV Id:
RCV000177718
RCV000526784
RCV003362714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala4251Gly
CA244523
NM_000445.4:c.12752C>G