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: PA645440270

Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236095

ClinVar RCV Id: RCV000323631 RCV000408538 RCV000278622 RCV000338922 RCV000373695 RCV000425865 RCV000778260

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr959Ala	CA958130 NM_000350.3:c.2875A>G