ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066499772
Gene: ABCA12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056472.2:p.Asp2047Tyr
CA350794126
NM_015657.4:c.6139G>T