ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252484
Gene: ABCA12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056472.2:p.Arg1886Ter
NM_015657.4:c.5656C>T