ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580138215
Gene: ABCA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1762002
ClinVar RCV Id:
RCV002419487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Leu27Pro
CA394352984
NM_001089.3:c.80T>C