ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499268586
Gene: RAB7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004628.4:p.Thr168Met
CA2600852
NM_004637.6:c.503C>T