ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580187394
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002900480
ClinVar Variation:
2045277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ile308Met
CA413601430
NM_001282224.2:c.924A>G