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: PA2828796126

Gene: ATP2C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5586

ClinVar RCV Id: RCV000005928

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365616.1:p.Cys490Phe	CA117626 NM_001378687.1:c.1469G>T