ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124664
Gene: HBD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
30096
ClinVar RCV:
RCV000016204
ClinVar Variation:
15057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Val99Met
CA124663
NM_000519.4:c.295G>A