ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091378
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372736
ClinVar RCV Id:
RCV000414525
RCV000699535
RCV002338970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Arg163His
CA16043184
NM_000033.4:c.488G>A