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: PA1139669471

Gene: GLA HGNC NCBI

Linked Data

ClinVar Variation Id: 924167

ClinVar RCV Id: RCV001185366 RCV002327443

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000160.1:p.Phe159Leu	CA413929326 NM_000169.3:c.477T>G CA413929334 NM_000169.3:c.477T>A CA413929368 NM_000169.3:c.475T>C