ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499677
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284224
ClinVar RCV Id:
RCV000725408
RCV001080192
RCV002314012
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Asn1336Asp
CA10459493
NM_000052.7:c.4006A>G