ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319949
Gene: AFG3L2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000195592
RCV001122821
RCV001640293
RCV001640294
RCV002517193
RCV003224221
ClinVar Variation:
214062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Val723Met
CA319947
NM_006796.3:c.2167G>A