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: PA2828783189

Gene: ATP2C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5586

ClinVar RCV Id: RCV000005928

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365443.1:p.Cys474Phe	CA117626 NM_001378514.1:c.1421G>T