ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826454757
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2832305
ClinVar RCV Id:
RCV003689432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Val90Ala
CA382890378
NM_001258208.2:c.269T>C