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: PA2825653730

Gene: PCCA HGNC NCBI

Linked Data

ClinVar Variation Id: 2154005

ClinVar RCV Id: RCV003069054

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121164.1:p.Met79Ile	CA255970801 NM_001127692.3:c.237G>A CA388693582 NM_001127692.3:c.237G>C CA388693583 NM_001127692.3:c.237G>T