ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665469
Gene: GATA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000533431
RCV000766096
RCV003133317
ClinVar Variation:
465135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002040.1:p.Val32Ile
CA10404535
NM_002049.4:c.94G>A