ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096631
Gene: RAB7A
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004628.4:p.Val162Met
NM_004637.6:c.484G>A