ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077700038
Gene: HBD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Ala143Val
CA379276398
NM_000519.4:c.428C>T