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: PA2829418297

Gene: SLC22A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3163315

ClinVar RCV Id: RCV004448698

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003048.1:p.Leu375Phe	CA151158201 NM_003057.3:c.1123C>T