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: PA2573066670

Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433307

ClinVar RCV Id: RCV000499109 RCV001857045 RCV002489227

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001162.5:p.Arg1114Cys	CA7925604 NM_001171.6:c.3340C>T