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: PA145854

Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 92588

ClinVar RCV Id: RCV000078327 RCV000394365 RCV000675829

ClinVar Variation Id: 2742036

ClinVar RCV Id: RCV003494929

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Leu649Pro	CA145853 NM_000181.4:c.1946T>C CA2697557267 NM_000181.4:c.1946_1947delinsCA