ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124735
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15103
ClinVar RCV Id:
RCV000016257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Asp48Ala
CA124734
NM_000518.5:c.143A>C