ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440194
Gene: ABCG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071881.1:p.Thr388Met
CA1636380
NM_022436.3:c.1163C>T