ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829917123
Gene: ABCD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064720.1:p.Thr191Arg
CA7266948
NM_020324.3:c.572C>G