ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827732293
Gene: ABCD4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000030859
RCV000059785
RCV002265570
ClinVar Variation:
37319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340534.1:p.Tyr56Cys
CA130166
NM_001353605.2:c.167A>G