ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987660
Gene: PMEL
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_008859.1:p.Glu370Asp
NM_006928.5:c.1110G>C
NM_006928.5:c.1110G>T