Canonical Allele Identifier: PA2825333163
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_001019553.1:p.Val185Leu
CA229595455
NM_001024382.2:c.553G>T
CA382894954
NM_001024382.2:c.553G>C