ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674548
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451328
ClinVar RCV Id:
RCV000523020
RCV001079767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Met225Val
CA10458952
NM_000052.7:c.673A>G