ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825037401
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943884
ClinVar RCV Id:
RCV001214165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Ser698Phe
CA413598408
NM_000052.7:c.2093C>T