ClinGen Allele Registry
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Canonical Allele Identifier:
PA100611
Gene: TYR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000363.1:p.Asp383Asn
NM_000372.5:c.1147G>A