ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073447656
Gene: ABCB5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157413.1:p.Thr131Asn
CA366905438
NM_001163941.2:c.392C>A