ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439421
Gene: ABCA12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334266
ClinVar RCV Id:
RCV000356196
RCV001464963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Ala476Val
CA2092235
NM_173076.3:c.1427C>T