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: PA251805

Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1450

ClinVar RCV Id: RCV000001515

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Leu228Arg	CA251804 NM_001024382.2:c.683T>G