ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091402
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11297
ClinVar RCV Id:
RCV000012049
RCV001268346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Asn148Ser
CA278103
NM_000033.4:c.443A>G