ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124676
Gene: HBD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016216
RCV000016217
ClinVar Variation:
15066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Arg117Cys
CA124675
NM_000519.4:c.349C>T