ClinGen Allele Registry
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Canonical Allele Identifier:
PA913191397
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
623117
ClinVar RCV Id:
RCV000761217
RCV002397532
RCV003141741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Lys533Gln
CA10550260
NM_000033.4:c.1597A>C