Canonical Allele Identifier: PA645439891
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236085
ClinVar RCV Id: RCV000408573 RCV000787483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Met573Ile
CA10602447
NM_000350.3:c.1719G>A
CA341280053
NM_000350.3:c.1719G>T
CA341280054
NM_000350.3:c.1719G>C