ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573062956
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001812585
ClinVar Variation:
1331036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Pro6Ala
CA217115556
NM_000518.5:c.16C>G