ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208760
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210466
ClinVar RCV Id:
RCV000194531
RCV000527923
RCV001081638
RCV002277451
RCV002372162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Met1311Val
CA208759
NM_000052.7:c.3931A>G