ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827513913
Gene: ABCB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451541
ClinVar RCV Id:
RCV000520814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336757.1:p.Thr416Met
CA2119436
NM_001349828.2:c.1247C>T