ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091475
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218422
ClinVar RCV Id:
RCV000202845
RCV000354458
RCV001354702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Ser606Pro
CA249048
NM_000033.4:c.1816T>C