ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA182803
Gene: ABCA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178696
ClinVar RCV Id:
RCV000155453
RCV000888350
RCV001007589
RCV002444640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Pro766Ser
CA182802
NM_001089.3:c.2296C>T