ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826605146
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533670
ClinVar RCV Id:
RCV000640890
RCV001835031
RCV002424438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ala831Thr
CA10459317
NM_001282224.2:c.2491G>A