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: PA2829934077

Gene: ANK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2527331

ClinVar RCV Id: RCV003253230

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065209.2:p.Lys1752Asn	CA4727337 NM_020476.3:c.5256G>C CA371051418 NM_020476.3:c.5256G>T