ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096093
Gene: ABCA4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000341.2:p.Gly65Glu
NM_000350.3:c.194G>A