Canonical Allele Identifier: PA103569
Gene: HMBS HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000181.2:p.His256Asn
NM_000190.4:c.[760del;762G>T;764G>C;768C>...

NM_000190.4:c.766C>A