ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA124688
Gene: HBD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016226
RCV000016227
ClinVar Variation:
15074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Leu76Val
CA124687
NM_000519.4:c.226C>G