ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580572521
Gene: AMTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997722.1:p.His82Asn
CA2950994
NM_212557.4:c.244C>A