ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA124642
Gene: HBD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016191
ClinVar Variation:
15046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Arg117His
CA124641
NM_000519.4:c.350G>A