ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094511
Gene: PINK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115785.1:p.Arg279His
CA252274
NM_032409.3:c.836G>A