Canonical Allele Identifier: PA1139681990
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 942235
ClinVar RCV Id: RCV001212178

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Met659Ile
CA341278819
NM_000350.3:c.1977G>T
CA341278821
NM_000350.3:c.1977G>A
CA341278823
NM_000350.3:c.1977G>C