ClinGen Allele Registry
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Canonical Allele Identifier:
PA096842
Gene: ABCA4
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000341.2:p.Trp1408Arg
NM_000350.3:c.4222T>A
NM_000350.3:c.4222T>C