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: PA2580108697

Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2131785

ClinVar RCV Id: RCV003052532

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Met1045Thr	CA341292512 NM_000350.3:c.3134T>C