ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483358
Gene: HERC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243011
ClinVar RCV Id:
RCV000235003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003913.3:p.Gly4520Glu
CA10584057
NM_003922.4:c.13559G>A