ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
PA2580427089
Gene: HHATL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004184055
ClinVar Variation:
2344743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065758.3:p.Asp384Tyr
CA2337252
NM_020707.4:c.1150G>T