Allele Registry

Canonical Allele Identifier: PA103179

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.713891103

Score 0.719116447

Score 0.723528362

ClinVar Allele:

16501

ClinVar RCV:

RCV000001527

RCV000432186

ClinVar Variation:

1462

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg201Trp	CA251820 NM_000190.4:c.601C>T