Allele Registry

Canonical Allele Identifier: PA277256

Gene: ATP7A HGNC NCBI

ClinVar Allele:

209264

ClinVar RCV:

RCV000194077

RCV000543168

ClinVar Variation:

210439

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Pro1001Leu	CA277255 NM_000052.7:c.3002C>T