ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079662005
Gene: PMEL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008859.1:p.Asn111Ile
CA385220150
NM_006928.5:c.332A>T