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: PA2827317436

Gene: ALG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4724

ClinVar RCV Id: RCV000004989 RCV000081987 RCV000210565 RCV000606536 RCV000655875 RCV001526585 RCV003483423

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317433.1:p.Ser147Leu	CA223556 NM_001330504.2:c.440C>T