ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499265135
Gene: HERC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003913.3:p.Ile2220Val
CA7605296
NM_003922.4:c.6658A>G