ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197570
Gene: ABHD14A-ACY1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303260.1:p.Pro454Ser
CA2428758
NM_001316331.2:c.1360C>T