ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012621
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000549839
RCV001764568
RCV002265795
RCV002367848
RCV003900169
ClinVar Variation:
465104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Met386Val
CA10459000
NM_001282224.2:c.1156A>G