ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103013
Gene: ABCD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Leu493Val
CA415108784
NM_000033.4:c.1477C>G