ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091359
Gene: ALAS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Pro520Leu
CA320759
NM_000032.5:c.1559C>T