ClinGen Allele Registry
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Canonical Allele Identifier:
PA658674580
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465104
ClinVar RCV Id:
RCV000549839
RCV002265795
RCV001764568
RCV002367848
RCV003900169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Met386Val
CA10459000
NM_000052.7:c.1156A>G