ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827731946
Gene: ABCD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340531.1:p.Thr176Met
CA7266864
NM_001353602.2:c.527C>T