ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580358973
Gene: HEYL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055386.2:p.Ala194Thr
CA786055
NM_014571.4:c.580G>A