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: PA2826467896

Gene: HAL HGNC NCBI

Linked Data

ClinVar Variation Id: 310703

ClinVar RCV Id: RCV000321077

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245262.1:p.Pro390Leu	CA6727421 NM_001258333.2:c.1169C>T