ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458508
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_958782.1:p.Ala3703Val
CA4924560
NM_201380.4:c.11108C>T