Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573166693

Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1523198

ClinVar RCV Id: RCV002038691

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ala781Thr	CA958299 NM_000350.3:c.2341G>A