Canonical Allele Identifier: PA2828627564
Gene: ABCA8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362700.1:p.Met190Ile
CA8731636
NM_001375771.1:c.570G>A
CA400810765
NM_001375771.1:c.570G>T
CA400810766
NM_001375771.1:c.570G>C