ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439417
Gene: ABCA12
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_775099.2:p.Arg434Ter
NM_173076.3:c.1300C>T