ClinGen Allele Registry
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Canonical Allele Identifier:
PA3081912272
Gene: ATP8B4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079113.2:p.Phe436Leu
CA7553395
NM_024837.4:c.1308C>G
CA7553396
NM_024837.4:c.1308C>A
CA392373764
NM_024837.4:c.1306T>C