ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669541
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
947810
ClinVar RCV Id:
RCV001218948
RCV003490129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Ser562Pro
CA415112708
NM_000033.4:c.1684T>C