ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827730834
Gene: ABCD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340524.1:p.Gln392Leu
CA7266681
NM_001353595.2:c.1175A>T