Canonical Allele Identifier: PA1139682048
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 859100
ClinVar RCV Id: RCV001065132

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Met708Ile
CA958349
NM_000350.3:c.2124G>T
CA341278487
NM_000350.3:c.2124G>C
CA341278488
NM_000350.3:c.2124G>A