ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826638210
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210466
ClinVar RCV Id:
RCV000194531
RCV000527923
RCV001081638
RCV002277451
RCV002372162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Met1233Val
CA208759
NM_001282224.2:c.3697A>G