ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083965972
Gene: ABCA6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_525023.2:p.Cys1359Arg
CA8733670
NM_080284.3:c.4075T>C