ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827730912
Gene: ABCD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382479
ClinVar RCV Id:
RCV000423379
RCV001083323
RCV003959901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340525.1:p.Arg113Cys
CA7267070
NM_001353596.2:c.337C>T