ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826605522
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11792
ClinVar RCV Id:
RCV000012559
RCV000194377
RCV003238723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Asn1226Ser
CA256071
NM_001282224.2:c.3677A>G