Canonical Allele Identifier: PA103804
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2735769
ClinVar RCV Id: RCV003557675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val202Leu
CA229595455
NM_000190.4:c.604G>T
CA382894954
NM_000190.4:c.604G>C