ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741954864
Gene: ABCA12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056472.2:p.Ser839Leu
CA2091728
NM_015657.4:c.2516C>T