ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675343
Gene: ACADVL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000009.1:p.Gly185Ala
NM_000018.4:c.554G>C