Canonical Allele Identifier: PA251837
Gene: HMBS HGNC NCBI
ClinVar RCV:
RCV000001539
ClinVar Variation:
1474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.His239Asn
CA251836
NM_001024382.2:c.715C>A