ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124688
Gene: HBD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Leu76Val
CA124687
NM_000519.4:c.226C>G