ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827328125
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071071
ClinVar RCV Id:
RCV004014573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Gln241Leu
CA388041771
NM_001330579.2:c.722A>T