ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439355
Gene: ABCA12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000422417
RCV002502566
ClinVar Variation:
388614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Arg44Trp
CA2092660
NM_173076.3:c.130C>T