ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800503
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528344
ClinVar RCV Id:
RCV000633490
RCV003139960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Cys511Tyr
CA415111140
NM_000033.4:c.1532G>A