ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827730037
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_001340520.1:p.Asp447Asn
CA7266765
NM_001353591.2:c.1339G>A