ClinGen Allele Registry
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Canonical Allele Identifier:
PA645441241
Gene: ABCA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318407
ClinVar RCV Id:
RCV000272311
RCV001556074
RCV002365372
RCV003922339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Ser1262Gly
CA7840395
NM_001089.3:c.3784A>G