ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827730639
Gene: ABCD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424218
ClinVar RCV Id:
RCV000820142
RCV002526975
RCV000755203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340523.1:p.Asp385Asn
CA7266765
NM_001353594.2:c.1153G>A