ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829917386
Gene: ABCD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064730.1:p.Thr350Arg
CA7266948
NM_020325.3:c.1049C>G