ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124644
Gene: HBD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016192
ClinVar Variation:
15047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Ala143Asp
CA124643
NM_000519.4:c.428C>A