ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605557
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284224
ClinVar RCV Id:
RCV000725408
RCV001080192
RCV002314012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Asn1258Asp
CA10459493
NM_001282224.2:c.3772A>G