ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012618
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425507
ClinVar RCV Id:
RCV000487621
RCV001362009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Ser361Leu
CA10458989
NM_001282224.2:c.1082C>T