Canonical Allele Identifier: PA2573167370
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513044
ClinVar RCV Id: RCV002023334 RCV004538738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Met2101Leu
CA341277599
NM_000350.3:c.6301A>T
CA341277601
NM_000350.3:c.6301A>C