ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669352
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838304
ClinVar RCV Id:
RCV001039824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Leu391Pro
CA415105262
NM_000033.4:c.1172T>C