ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658725908
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000585598
RCV001483521
ClinVar Variation:
493534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.His1437Arg
CA413606147
NM_000052.7:c.4310A>G