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: PA2830395628

Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2243453

ClinVar RCV Id: RCV002737720

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_852609.1:p.Ser748Cys	CA379519516 NM_181508.1:c.2243C>G