ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480674
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000421027
RCV000558912
RCV004022436
ClinVar Variation:
388965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala3552Val
CA4924560
NM_201378.4:c.10655C>T