ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124579
Gene: HBG1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016145
RCV000030904
RCV000455125
RCV002227037
ClinVar Variation:
15005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000550.2:p.Thr76Ile
CA124578
NM_000559.3:c.227C>T