ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830493508
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000421027
RCV000558912
RCV004022436
ClinVar Variation:
388965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala3534Val
CA4924560
NM_201381.3:c.10601C>T