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: PA094433

Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17755

ClinVar RCV Id: RCV000019332 RCV001811190

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000333.1:p.Pro327Arg	CA127374 NM_000342.4:c.980C>G