ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA103028
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1473
ClinVar RCV Id:
RCV000001538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Ala252Val
CA251834
NM_000190.4:c.755C>T