ClinGen Allele Registry
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Canonical Allele Identifier:
PA645441013
Gene: ABCA4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Met1882Ile
CA957183
NM_000350.3:c.5646G>A
CA957184
NM_000350.3:c.5646G>C
CA341280828
NM_000350.3:c.5646G>T