Canonical Allele Identifier: PA1139684700
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Asp2102Glu
CA956910
NM_000350.3:c.6306C>A
CA341277586
NM_000350.3:c.6306C>G