ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125700
Gene: HBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000017006
RCV001283982
RCV003982805
ClinVar Variation:
15712
3061293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000549.1:p.Pro115Arg
CA125699
NM_000558.5:c.344C>G