ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683648
Gene: ABCA3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Asp953Asn
CA7840686
NM_001089.3:c.2857G>A