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: PA2827653723

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 1804678

ClinVar RCV Id: RCV002469975

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339446.1:p.Asn570Lys	CA320418836 NM_001352517.1:c.1710C>G CA409920070 NM_001352517.1:c.1710C>A