ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800458
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528342
ClinVar RCV Id:
RCV000633488
RCV001251421
RCV003139959
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Ala247Thr
CA10550007
NM_000033.4:c.739G>A