ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826638230
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11795
ClinVar RCV Id:
RCV000012562
RCV000789728
RCV001206423
RCV001696176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Pro1308Ser
CA256077
NM_001282224.2:c.3922C>T