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: PA2580102989

Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1769139

ClinVar RCV Id: RCV002380577 RCV003624483

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000024.2:p.Arg431His	CA10550177 NM_000033.4:c.1292G>A