ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427979
Gene: HERC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000224479
RCV000603184
ClinVar Variation:
235205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004658.3:p.Val2577Ile
CA7441670
NM_004667.6:c.7729G>A