ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139703938
Gene: GATA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002040.1:p.Lys315Arg
CA10404680
NM_002049.4:c.944A>G