ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825176039
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388965
ClinVar RCV Id:
RCV000421027
RCV000558912
RCV004022436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala3593Val
CA4924560
NM_000445.4:c.10778C>T