ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121076
Gene: ALAS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001033057.1:p.Ile463Asn
CA121074
NM_001037968.4:c.1388T>A