ClinGen Allele Registry
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Canonical Allele Identifier:
PA645499464
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001241258
RCV001712456
RCV001834599
RCV003419831
ClinVar Variation:
429717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Lys742Arg
CA10459243
NM_000052.7:c.2225A>G