ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069873285
Gene: AGA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000018.2:p.Thr149Ile
CA358783313
NM_000027.3:c.446C>T