ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827513853
Gene: ABCB6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000023440
RCV002247384
RCV002513189
ClinVar Variation:
30483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336757.1:p.Ala57Thr
CA129262
NM_001349828.2:c.169G>A