ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA203886
Gene: ABCA3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001080.2:p.Glu292Val
NM_001089.3:c.875A>T