Canonical Allele Identifier: PA645499410
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 374773
ClinVar RCV Id: RCV000416018 RCV001087633
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Leu631Phe
CA10459156
NM_000052.7:c.1893G>C
CA413597943
NM_000052.7:c.1893G>T