ClinGen Allele Registry
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Canonical Allele Identifier:
PA175147
Gene: ABCA3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
176003
ClinVar RCV:
RCV000150114
RCV001117778
RCV001775635
RCV002415634
RCV003398796
ClinVar Variation:
162674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Arg709Trp
CA175146
NM_001089.3:c.2125C>T