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: PA2826455034

Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1462

ClinVar RCV Id: RCV000001527 RCV000432186

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245138.1:p.Arg184Trp	CA251820 NM_001258209.2:c.550C>T