ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826454997
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1457
ClinVar RCV Id:
RCV000001522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245138.1:p.Arg150Leu
CA251815
NM_001258209.2:c.449G>T