ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573159850
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1679949
ClinVar RCV Id:
RCV002237199
RCV003138105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Leu605Pro
CA415115886
NM_000033.4:c.1814T>C