ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825076541
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637588
ClinVar RCV Id:
RCV000789841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Met1Arg