ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825037297
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
705791
ClinVar RCV Id:
RCV000876194
RCV001274232
RCV001692311
RCV002399963
RCV003908329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Arg590Gly
CA10459103
NM_000052.7:c.1768A>G