ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605694
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000624547
RCV000687489
RCV001829743
RCV003151797
ClinVar Variation:
521337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Asn1397Ser
CA10459553
NM_001282224.2:c.4190A>G