ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104801
Gene: ABCA12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002992
ClinVar Variation:
2858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Glu1539Lys
CA252478
NM_173076.3:c.4615G>A