ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098108
Gene: ABCA3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008479
ClinVar Variation:
8015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Asn568Asp
CA119217
NM_001089.3:c.1702A>G