ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104023
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1805735
ClinVar RCV Id:
RCV002472153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Ser1390Pro
CA413605829
NM_000052.7:c.4168T>C