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: PA2826454767

Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1953004

ClinVar RCV Id: RCV002672149

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Ala112Gly	CA382891114 NM_001258208.2:c.335C>G