ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741850703
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2937291
ClinVar RCV Id:
RCV003791481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Met175Val
CA10458933
NM_001282224.2:c.523A>G