ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139734759
Gene: HERC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004658.3:p.Ser3475Phe
CA7440839
NM_004667.6:c.10424C>T