Canonical Allele Identifier: PA1139690364
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 851793
ClinVar RCV Id: RCV001056264
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Met212Ile
CA382896764
NM_001258208.2:c.636G>A
CA382896766
NM_001258208.2:c.636G>T
CA382896770
NM_001258208.2:c.636G>C