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: PA915965353

Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 660494

ClinVar RCV Id: RCV000817695

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Ser648Arg	CA4276137 NM_000181.4:c.1942A>C CA367636959 NM_000181.4:c.1944C>G CA367636961 NM_000181.4:c.1944C>A