ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012654
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388532
ClinVar RCV Id:
RCV000443197
RCV001035427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Thr601Asn
CA10459112
NM_001282224.2:c.1802C>A