ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668198
Gene: GJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
846056
ClinVar RCV Id:
RCV001049259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000156.1:p.Phe212Ile
CA365559450
NM_000165.5:c.634T>A