ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097252
Gene: HERC2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004658.3:p.Pro594Leu
NM_004667.6:c.1781C>T