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: PA103243

Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 372379

ClinVar RCV Id: RCV000413917 RCV000779045

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Asp178Asn	CA6314087 NM_000190.4:c.532G>A