ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439405
Gene: ABCA12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334274
ClinVar RCV Id:
RCV000397743
RCV003765944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Leu294Val
CA10614105
NM_173076.3:c.880C>G