ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827730444
Gene: ABCD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381876
ClinVar RCV Id:
RCV000443723
RCV000763942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340522.1:p.Arg384Trp
CA7266821
NM_001353593.2:c.1150C>T