Canonical Allele Identifier: PA096988
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99101
ClinVar RCV Id: RCV000085445 RCV000174470 RCV000260757 RCV000318324 RCV000356519 RCV000353201 RCV001075850 RCV001098279 RCV000986369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val643Met
CA201008
NM_000350.3:c.1927G>A