ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827730774
Gene: ABCD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340524.1:p.Glu230Lys
CA7266933
NM_001353595.2:c.688G>A