Canonical Allele Identifier: PA1139680248
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 880032
ClinVar RCV Id: RCV001108007 RCV001856441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Met295Ile
CA229597085
NM_000190.4:c.885G>A
CA382898899
NM_000190.4:c.885G>T
CA382898901
NM_000190.4:c.885G>C