ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825077651
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637656
ClinVar RCV Id:
RCV000789921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Tyr151His
CA413502539
NM_000166.6:c.451T>C