ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077700034
Gene: HBD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Trp38Ser
CA379277123
NM_000519.4:c.113G>C