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: PA2825333181

Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 689731

ClinVar RCV Id: RCV000850508 RCV001759639 RCV003489938

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Ala202Ser	CA229596291 NM_001024382.2:c.604G>T