ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091381
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430349
ClinVar RCV Id:
RCV000493301
RCV000633486
RCV002350104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Arg189Trp
CA415099128
NM_000033.4:c.565C>T