ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440605
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_005041.1:p.Arg251Cys
CA7267070
NM_005050.4:c.751C>T